This blog is about my 8 year old son Joey and our journey into diagnosing his PDD-NOS and Epilepsy, learning from it and helping others, as well as being a great place to store all the information I gather along the way.

Autism

Autism spectrum disorder (ASD) and autism are both general terms for a group of complex disorders of brain development. These disorders are characterized, in varying degrees, by difficulties in social interaction, verbal and nonverbal communication and repetitive behaviors. They include autistic disorder, Rett syndrome, childhood disintegrative disorder, pervasive developmental disorder-not otherwise specified (PDD-NOS) and Asperger syndrome. ASD can be associated with intellectual disability, difficulties in motor coordination and attention and physical health issues such as sleep and gastrointestinal disturbances. Some persons with ASD excel in visual skills, music, math and art.

Autism appears to have its roots in very early brain development. However, the most obvious signs of autism and symptoms of autism tend to emerge between 2 and 3 years of age. Autism Speaks continues to fund research on effective methods for earlier diagnosis, as early intervention with proven behavioral therapies can improve outcomes. Increasing autism awareness is a key aspect of this work and one in which our families and volunteers play an invaluable role. Learn more …

How Common Is Autism?

Autism statistics from the U.S. Centers for Disease Control and Prevention (CDC) identify around 1 in 88 American children as on the autism spectrum–a ten-fold increase in prevalence in 40 years. Careful research shows that this increase is only partly explained by improved diagnosis and awareness. Studies also show that autism is three to four times more common among boys than girls. An estimated 1 out of 54 boys and 1 in 252 girls are diagnosed with autism in the United States.

By way of comparison, this is more children than are affected by diabetes, AIDS, cancer, cerebral palsy, cystic fibrosis, muscular dystrophy or Down syndrome, combined.* ASD affects over 2 million individuals in the U.S. and tens of millions worldwide. Moreover, government autism statistics suggest that prevalence rates have increased 10 to 17 percent annually in recent years. There is no established explanation for this continuing increase, although improved diagnosis and environmental influences are two reasons often considered. Learn more …

What Causes Autism?

Not long ago, the answer to this question would have been “we have no idea.” Research is now delivering the answers. First and foremost, we now know that there is no one cause of autism just as there is no one type of autism. Over the last five years, scientists have identified a number of rare gene changes, or mutations, associated with autism. A small number of these are sufficient to cause autism by themselves. Most cases of autism, however, appear to be caused by a combination of autism risk genes and environmental factors influencing early brain development.

In the presence of a genetic predisposition to autism, a number of nongenetic, or “environmental,” stresses appear to further increase a child’s risk. The clearest evidence of these autism risk factors involves events before and during birth. They include advanced parental age at time of conception (both mom and dad), maternal illness during pregnancy and certain difficulties during birth, particularly those involving periods of oxygen deprivation to the baby’s brain. It is important to keep in mind that these factors, by themselves, do not cause autism. Rather, in combination with genetic risk factors, they appear to modestly increase risk.

A small but growing body of research suggests that autism risk is less among children whose mothers took prenatal vitamins (containing folic acid) in the months before and after conception.

Increasingly, researchers are looking at the role of the immune system in autism. Autism Speaks is working to increase awareness and investigation of these and other issues, where further research has the potential to improve the lives of those who struggle with autism. Learn more …

What Does It Mean to Be “On the Spectrum”?

Each individual with autism is unique. Many of those on the autism spectrum have exceptional abilities in visual skills, music and academic skills. About 40 percent have average to above average intellectual abilities. Indeed, many persons on the spectrum take deserved pride in their distinctive abilities and “atypical” ways of viewing the world. Others with autism have significant disability and are unable to live independently. About 25 percent of individuals with ASD are nonverbal but can learn to communicate using other means. Autism Speaks’ mission is to improve the lives of all those on the autism spectrum. For some, this means the development and delivery of more effective treatments that can address significant challenges in communication and physical health. For others, it means increasing acceptance, respect and support.

Pervasive Developmental Disorder-Not Otherwise Specified (PDD-NOS) is one of the autism spectrum disorders and is used to describe individuals who do not fully meet the criteria for autistic disorder or Asperger syndrome.

PDD-NOS may be thought of as “subthreshold autism," or a diagnosis one can give a person who has “atypical symptomatology.” 2 In other words, when someone has autistic characteristics but some of their symptoms are mild, or they have symptoms in one area (like social deficits), but none in another key area (like restricted, repetitive behaviors), they may be given the PDD-NOS label.

In the DSM-IV Criteria for a Diagnosis of Pervasive Developmental Disorder Not Otherwise Specified, PDD-NOS is covered in a single paragraph, which mainly asserts what it is not:

"This category should be used when there is severe and pervasive impairment in the development of reciprocal social interaction associated with impairment in either verbal or nonverbal communication skills or with the presence of stereotyped behavior, interests, and activities, but the criteria are not met for a specific Pervasive Developmental Disorder, Schizophrenia, Schizotypal Personality Disorder, or Avoidant Personality Disorder. For example, this category includes “atypical autism” – presentations that do not meet the criteria for Autistic Disorder because of late age at onset, atypical symptomatology, or subthreshold symptomatology, or all of these." 1

That will vary, of course, but in one study, researchers found that those with PDD-NOS could be placed in one of three very different subgroups: 4

•A high-functioning group (24%) who resembled people with Asperger syndrome but had transient language delay or mild cognitive impairment (such that they could not receive the Asperger diagnosis which requires no speech or cognitive delay).

•A group (24%) who resembled people with autism but who had a late age of onset, or otherwise did not meet the criteria for autism.

•A group (52%) who were autistic-like, but displayed fewer stereotyped and repetitive behaviors.

Intervention and Treatment Options

Some parents may prefer the label PDD-NOS, feeling it is less stigmatizing than “autism," while others may find agencies and providers have less of an understanding of the label, making it harder to access services. In any case, an individual diagnosed with PDD-NOS, like individuals diagnosed with autism or Aspergers syndrome, can benefit from earlyintervention, education services and an Individual Education Program (IEP).

In order to determine what treatments and interventions will be most effective for an individual with PDD-NOS, a thorough assessment of all symptoms must be done. The evaluation must examine a wide variety of factors including behavioral history, current symptoms, communication patterns, social competence and neuropsychological functioning.

An individual with PDD-NOS may have completely different strengths and challenges than another individual with the same diagnosis. One treatment that is the most significant and most effective for one child may be completely unnecessary and ineffective for another. As a result, treatments and interventions must be very individualized based on the information gathered from the thorough assessment.

“A treatment method or an educational method that will work for one child may not work for another child. The one common denominator for all of the young children is that early intervention does work, and it seems to improve the prognosis.” – Temple Grandin

Further Research

Research is needed to further investigate whether specific autism spectrum conditions, as yet unnamed, can be teased out of the catch-all category currently called PDD-NOS. There is no question that there are such conditions, that PDD-NOS (or whatever conditions we are bunching in that category for the moment) exists.

1.On the hypothetical autism spectrum, writes one researcher: “PDD-NOS is a paradoxical clinical entity. Despite its amorphous clinical boundaries and the subtlety of the clinical presentation, PDD-NOS is one of the most important PDDs. Its importance stems from its relationship to autism, its prevalence, and most of all, the impairment that it imparts to those who have it.” 5American Psychiatric Association. (2000). Diagnostic and statistical manual of mental disorders (4th ed., rev.). Washington DC: Author. (Pg. 84)

2.Mesibov, G.B. (1997). Ask the Editor: What is PDD-NOS and how is it diagnosed? Journal of Autism and Developmental Disorders, 27(4), 497-498.